ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6748C>T (p.Arg2250Cys)

gnomAD frequency: 0.00003  dbSNP: rs375586314
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000797257 SCV000936806 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-04-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495054 SCV002788976 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-04-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004965744 SCV005546246 uncertain significance Inborn genetic diseases 2024-08-26 criteria provided, single submitter clinical testing The c.6748C>T (p.R2250C) alteration is located in exon 35 (coding exon 34) of the CACNA1H gene. This alteration results from a C to T substitution at nucleotide position 6748, causing the arginine (R) at amino acid position 2250 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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